PubMed:23633568
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
23633568_0 | 1466-1475 | ProteinMutation | denotes | Met694Val | rs61752717 |
Inflammaging
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-133 | Sentence | denotes | Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. |
T2 | 134-360 | Sentence | denotes | Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. |
T3 | 361-748 | Sentence | denotes | In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association. |
T4 | 749-921 | Sentence | denotes | A differential distribution of the rare and low-frequency NSVs of a gene in 2,461 BD cases compared with 2,458 controls indicated their collective association with disease. |
T5 | 922-1248 | Sentence | denotes | By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10(-5)), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10(-4)), were associated with BD. |
T6 | 1249-1386 | Sentence | denotes | In addition, damaging or rare damaging NOD2 variants were nominally significant across all three burden tests applied (P = 0.0063-0.045). |
T7 | 1387-1627 | Sentence | denotes | Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)). |
T8 | 1628-1749 | Sentence | denotes | The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis. |
T1 | 0-133 | Sentence | denotes | Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. |
T2 | 134-360 | Sentence | denotes | Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. |
T3 | 361-748 | Sentence | denotes | In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association. |
T4 | 749-921 | Sentence | denotes | A differential distribution of the rare and low-frequency NSVs of a gene in 2,461 BD cases compared with 2,458 controls indicated their collective association with disease. |
T5 | 922-1248 | Sentence | denotes | By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10(-5)), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10(-4)), were associated with BD. |
T6 | 1249-1386 | Sentence | denotes | In addition, damaging or rare damaging NOD2 variants were nominally significant across all three burden tests applied (P = 0.0063-0.045). |
T7 | 1387-1627 | Sentence | denotes | Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)). |
T8 | 1628-1749 | Sentence | denotes | The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
23633568-0#46#65#gene4210 | 46-65 | gene4210 | denotes | Mediterranean fever |
23633568-0#84#104#gene7099 | 84-104 | gene7099 | denotes | toll-like receptor 4 |
23633568-0#110#114#gene7099 | 110-114 | gene7099 | denotes | TLR4 |
23633568-0#118#132#diseaseC0004943 | 118-132 | diseaseC0004943 | denotes | Behçet disease |
23633568-2#141#145#gene3586 | 502-506 | gene3586 | denotes | IL10 |
23633568-2#195#200#gene8302 | 556-561 | gene8302 | denotes | KLRC4 |
23633568-2#206#211#gene51752 | 567-572 | gene51752 | denotes | ERAP1 |
23633568-2#270#274#gene3553 | 631-635 | gene3553 | denotes | IL1B |
23633568-2#276#281#gene3554 | 637-642 | gene3554 | denotes | IL1R1 |
23633568-2#283#288#gene3557 | 644-649 | gene3557 | denotes | IL1RN |
23633568-2#290#295#gene114548 | 651-656 | gene114548 | denotes | NLRP3 |
23633568-2#303#311#gene7132 | 664-672 | gene7132 | denotes | TNFRSF1A |
23633568-2#313#320#gene9051 | 674-681 | gene9051 | denotes | PSTPIP1 |
23633568-2#322#327#gene834 | 683-688 | gene834 | denotes | CASP1 |
23633568-2#329#335#gene29108 | 690-696 | gene29108 | denotes | PYCARD |
23633568-2#337#341#gene64127 | 698-702 | gene64127 | denotes | NOD2 |
23633568-2#24#38#diseaseC0004943 | 385-399 | diseaseC0004943 | denotes | Behçet disease |
23633568-2#372#374#diseaseC0004943 | 733-735 | diseaseC0004943 | denotes | BD |
23633568-2#24#38#diseaseC0004943 | 385-399 | diseaseC0004943 | denotes | Behçet disease |
23633568-2#372#374#diseaseC0004943 | 733-735 | diseaseC0004943 | denotes | BD |
23633568-2#24#38#diseaseC0004943 | 385-399 | diseaseC0004943 | denotes | Behçet disease |
23633568-4#209#214#gene149233 | 1131-1136 | gene149233 | denotes | IL23R |
23633568-4#323#325#diseaseC0004943 | 1245-1247 | diseaseC0004943 | denotes | BD |
23633568-6#38#57#gene4210 | 1425-1444 | gene4210 | denotes | Mediterranean fever |
23633568-6#136#164#diseaseC0031069 | 1523-1551 | diseaseC0031069 | denotes | familial Mediterranean fever |
46#65#gene4210118#132#diseaseC0004943 | 23633568-0#46#65#gene4210 | 23633568-0#118#132#diseaseC0004943 | associated_with | Mediterranean fever,Behçet disease |
84#104#gene7099118#132#diseaseC0004943 | 23633568-0#84#104#gene7099 | 23633568-0#118#132#diseaseC0004943 | associated_with | toll-like receptor 4,Behçet disease |
110#114#gene7099118#132#diseaseC0004943 | 23633568-0#110#114#gene7099 | 23633568-0#118#132#diseaseC0004943 | associated_with | TLR4,Behçet disease |
141#145#gene358624#38#diseaseC0004943 | 23633568-2#141#145#gene3586 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL10,Behçet disease |
141#145#gene3586372#374#diseaseC0004943 | 23633568-2#141#145#gene3586 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL10,BD |
141#145#gene358624#38#diseaseC0004943 | 23633568-2#141#145#gene3586 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL10,Behçet disease |
141#145#gene3586372#374#diseaseC0004943 | 23633568-2#141#145#gene3586 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL10,BD |
141#145#gene358624#38#diseaseC0004943 | 23633568-2#141#145#gene3586 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL10,Behçet disease |
195#200#gene830224#38#diseaseC0004943 | 23633568-2#195#200#gene8302 | 23633568-2#24#38#diseaseC0004943 | associated_with | KLRC4,Behçet disease |
195#200#gene8302372#374#diseaseC0004943 | 23633568-2#195#200#gene8302 | 23633568-2#372#374#diseaseC0004943 | associated_with | KLRC4,BD |
195#200#gene830224#38#diseaseC0004943 | 23633568-2#195#200#gene8302 | 23633568-2#24#38#diseaseC0004943 | associated_with | KLRC4,Behçet disease |
195#200#gene8302372#374#diseaseC0004943 | 23633568-2#195#200#gene8302 | 23633568-2#372#374#diseaseC0004943 | associated_with | KLRC4,BD |
195#200#gene830224#38#diseaseC0004943 | 23633568-2#195#200#gene8302 | 23633568-2#24#38#diseaseC0004943 | associated_with | KLRC4,Behçet disease |
206#211#gene5175224#38#diseaseC0004943 | 23633568-2#206#211#gene51752 | 23633568-2#24#38#diseaseC0004943 | associated_with | ERAP1,Behçet disease |
206#211#gene51752372#374#diseaseC0004943 | 23633568-2#206#211#gene51752 | 23633568-2#372#374#diseaseC0004943 | associated_with | ERAP1,BD |
206#211#gene5175224#38#diseaseC0004943 | 23633568-2#206#211#gene51752 | 23633568-2#24#38#diseaseC0004943 | associated_with | ERAP1,Behçet disease |
206#211#gene51752372#374#diseaseC0004943 | 23633568-2#206#211#gene51752 | 23633568-2#372#374#diseaseC0004943 | associated_with | ERAP1,BD |
206#211#gene5175224#38#diseaseC0004943 | 23633568-2#206#211#gene51752 | 23633568-2#24#38#diseaseC0004943 | associated_with | ERAP1,Behçet disease |
270#274#gene355324#38#diseaseC0004943 | 23633568-2#270#274#gene3553 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1B,Behçet disease |
270#274#gene3553372#374#diseaseC0004943 | 23633568-2#270#274#gene3553 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1B,BD |
270#274#gene355324#38#diseaseC0004943 | 23633568-2#270#274#gene3553 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1B,Behçet disease |
270#274#gene3553372#374#diseaseC0004943 | 23633568-2#270#274#gene3553 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1B,BD |
270#274#gene355324#38#diseaseC0004943 | 23633568-2#270#274#gene3553 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1B,Behçet disease |
276#281#gene355424#38#diseaseC0004943 | 23633568-2#276#281#gene3554 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1R1,Behçet disease |
276#281#gene3554372#374#diseaseC0004943 | 23633568-2#276#281#gene3554 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1R1,BD |
276#281#gene355424#38#diseaseC0004943 | 23633568-2#276#281#gene3554 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1R1,Behçet disease |
276#281#gene3554372#374#diseaseC0004943 | 23633568-2#276#281#gene3554 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1R1,BD |
276#281#gene355424#38#diseaseC0004943 | 23633568-2#276#281#gene3554 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1R1,Behçet disease |
283#288#gene355724#38#diseaseC0004943 | 23633568-2#283#288#gene3557 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1RN,Behçet disease |
283#288#gene3557372#374#diseaseC0004943 | 23633568-2#283#288#gene3557 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1RN,BD |
283#288#gene355724#38#diseaseC0004943 | 23633568-2#283#288#gene3557 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1RN,Behçet disease |
283#288#gene3557372#374#diseaseC0004943 | 23633568-2#283#288#gene3557 | 23633568-2#372#374#diseaseC0004943 | associated_with | IL1RN,BD |
283#288#gene355724#38#diseaseC0004943 | 23633568-2#283#288#gene3557 | 23633568-2#24#38#diseaseC0004943 | associated_with | IL1RN,Behçet disease |
290#295#gene11454824#38#diseaseC0004943 | 23633568-2#290#295#gene114548 | 23633568-2#24#38#diseaseC0004943 | associated_with | NLRP3,Behçet disease |
290#295#gene114548372#374#diseaseC0004943 | 23633568-2#290#295#gene114548 | 23633568-2#372#374#diseaseC0004943 | associated_with | NLRP3,BD |
290#295#gene11454824#38#diseaseC0004943 | 23633568-2#290#295#gene114548 | 23633568-2#24#38#diseaseC0004943 | associated_with | NLRP3,Behçet disease |
290#295#gene114548372#374#diseaseC0004943 | 23633568-2#290#295#gene114548 | 23633568-2#372#374#diseaseC0004943 | associated_with | NLRP3,BD |
290#295#gene11454824#38#diseaseC0004943 | 23633568-2#290#295#gene114548 | 23633568-2#24#38#diseaseC0004943 | associated_with | NLRP3,Behçet disease |
303#311#gene713224#38#diseaseC0004943 | 23633568-2#303#311#gene7132 | 23633568-2#24#38#diseaseC0004943 | associated_with | TNFRSF1A,Behçet disease |
303#311#gene7132372#374#diseaseC0004943 | 23633568-2#303#311#gene7132 | 23633568-2#372#374#diseaseC0004943 | associated_with | TNFRSF1A,BD |
303#311#gene713224#38#diseaseC0004943 | 23633568-2#303#311#gene7132 | 23633568-2#24#38#diseaseC0004943 | associated_with | TNFRSF1A,Behçet disease |
303#311#gene7132372#374#diseaseC0004943 | 23633568-2#303#311#gene7132 | 23633568-2#372#374#diseaseC0004943 | associated_with | TNFRSF1A,BD |
303#311#gene713224#38#diseaseC0004943 | 23633568-2#303#311#gene7132 | 23633568-2#24#38#diseaseC0004943 | associated_with | TNFRSF1A,Behçet disease |
313#320#gene905124#38#diseaseC0004943 | 23633568-2#313#320#gene9051 | 23633568-2#24#38#diseaseC0004943 | associated_with | PSTPIP1,Behçet disease |
313#320#gene9051372#374#diseaseC0004943 | 23633568-2#313#320#gene9051 | 23633568-2#372#374#diseaseC0004943 | associated_with | PSTPIP1,BD |
313#320#gene905124#38#diseaseC0004943 | 23633568-2#313#320#gene9051 | 23633568-2#24#38#diseaseC0004943 | associated_with | PSTPIP1,Behçet disease |
313#320#gene9051372#374#diseaseC0004943 | 23633568-2#313#320#gene9051 | 23633568-2#372#374#diseaseC0004943 | associated_with | PSTPIP1,BD |
313#320#gene905124#38#diseaseC0004943 | 23633568-2#313#320#gene9051 | 23633568-2#24#38#diseaseC0004943 | associated_with | PSTPIP1,Behçet disease |
322#327#gene83424#38#diseaseC0004943 | 23633568-2#322#327#gene834 | 23633568-2#24#38#diseaseC0004943 | associated_with | CASP1,Behçet disease |
322#327#gene834372#374#diseaseC0004943 | 23633568-2#322#327#gene834 | 23633568-2#372#374#diseaseC0004943 | associated_with | CASP1,BD |
322#327#gene83424#38#diseaseC0004943 | 23633568-2#322#327#gene834 | 23633568-2#24#38#diseaseC0004943 | associated_with | CASP1,Behçet disease |
322#327#gene834372#374#diseaseC0004943 | 23633568-2#322#327#gene834 | 23633568-2#372#374#diseaseC0004943 | associated_with | CASP1,BD |
322#327#gene83424#38#diseaseC0004943 | 23633568-2#322#327#gene834 | 23633568-2#24#38#diseaseC0004943 | associated_with | CASP1,Behçet disease |
329#335#gene2910824#38#diseaseC0004943 | 23633568-2#329#335#gene29108 | 23633568-2#24#38#diseaseC0004943 | associated_with | PYCARD,Behçet disease |
329#335#gene29108372#374#diseaseC0004943 | 23633568-2#329#335#gene29108 | 23633568-2#372#374#diseaseC0004943 | associated_with | PYCARD,BD |
329#335#gene2910824#38#diseaseC0004943 | 23633568-2#329#335#gene29108 | 23633568-2#24#38#diseaseC0004943 | associated_with | PYCARD,Behçet disease |
329#335#gene29108372#374#diseaseC0004943 | 23633568-2#329#335#gene29108 | 23633568-2#372#374#diseaseC0004943 | associated_with | PYCARD,BD |
329#335#gene2910824#38#diseaseC0004943 | 23633568-2#329#335#gene29108 | 23633568-2#24#38#diseaseC0004943 | associated_with | PYCARD,Behçet disease |
337#341#gene6412724#38#diseaseC0004943 | 23633568-2#337#341#gene64127 | 23633568-2#24#38#diseaseC0004943 | associated_with | NOD2,Behçet disease |
337#341#gene64127372#374#diseaseC0004943 | 23633568-2#337#341#gene64127 | 23633568-2#372#374#diseaseC0004943 | associated_with | NOD2,BD |
337#341#gene6412724#38#diseaseC0004943 | 23633568-2#337#341#gene64127 | 23633568-2#24#38#diseaseC0004943 | associated_with | NOD2,Behçet disease |
337#341#gene64127372#374#diseaseC0004943 | 23633568-2#337#341#gene64127 | 23633568-2#372#374#diseaseC0004943 | associated_with | NOD2,BD |
337#341#gene6412724#38#diseaseC0004943 | 23633568-2#337#341#gene64127 | 23633568-2#24#38#diseaseC0004943 | associated_with | NOD2,Behçet disease |
209#214#gene149233323#325#diseaseC0004943 | 23633568-4#209#214#gene149233 | 23633568-4#323#325#diseaseC0004943 | associated_with | IL23R,BD |
38#57#gene4210136#164#diseaseC0031069 | 23633568-6#38#57#gene4210 | 23633568-6#136#164#diseaseC0031069 | associated_with | Mediterranean fever,familial Mediterranean fever |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 502-506 | gene:3586 | denotes | IL10 |
T1 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T2 | 515-519 | gene:1230 | denotes | CCR1 |
T3 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T4 | 521-526 | gene:6775 | denotes | STAT4 |
T5 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T6 | 528-533 | gene:100528032 | denotes | KLRK1 |
T7 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T8 | 528-533 | gene:22914 | denotes | KLRK1 |
T9 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T10 | 535-540 | gene:3821 | denotes | KLRC1 |
T11 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T12 | 542-547 | gene:3822 | denotes | KLRC2 |
T13 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T14 | 549-554 | gene:3823 | denotes | KLRC3 |
T15 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T16 | 556-561 | gene:8302 | denotes | KLRC4 |
T17 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T18 | 556-561 | gene:8302 | denotes | KLRC4 |
T19 | 733-735 | disease:C0004943 | denotes | BD |
T20 | 567-572 | gene:51752 | denotes | ERAP1 |
T21 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T22 | 567-572 | gene:51752 | denotes | ERAP1 |
T23 | 733-735 | disease:C0004943 | denotes | BD |
T24 | 631-635 | gene:3553 | denotes | IL1B |
T25 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T26 | 637-642 | gene:3554 | denotes | IL1R1 |
T27 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T28 | 644-649 | gene:3557 | denotes | IL1RN |
T29 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T30 | 651-656 | gene:114548 | denotes | NLRP3 |
T31 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T32 | 664-672 | gene:7132 | denotes | TNFRSF1A |
T33 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T34 | 674-681 | gene:9051 | denotes | PSTPIP1 |
T35 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T36 | 683-688 | gene:834 | denotes | CASP1 |
T37 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T38 | 690-696 | gene:29108 | denotes | PYCARD |
T39 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T40 | 698-702 | gene:64127 | denotes | NOD2 |
T41 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T42 | 698-702 | gene:64127 | denotes | NOD2 |
T43 | 733-735 | disease:C0004943 | denotes | BD |
T44 | 708-712 | gene:7099 | denotes | TLR4 |
T45 | 385-399 | disease:C0004943 | denotes | Behçet disease |
T46 | 708-712 | gene:7099 | denotes | TLR4 |
T47 | 733-735 | disease:C0004943 | denotes | BD |
R1 | T0 | T1 | associated_with | IL10,Behçet disease |
R2 | T2 | T3 | associated_with | CCR1,Behçet disease |
R3 | T4 | T5 | associated_with | STAT4,Behçet disease |
R4 | T6 | T7 | associated_with | KLRK1,Behçet disease |
R5 | T8 | T9 | associated_with | KLRK1,Behçet disease |
R6 | T10 | T11 | associated_with | KLRC1,Behçet disease |
R7 | T12 | T13 | associated_with | KLRC2,Behçet disease |
R8 | T14 | T15 | associated_with | KLRC3,Behçet disease |
R9 | T16 | T17 | associated_with | KLRC4,Behçet disease |
R10 | T18 | T19 | associated_with | KLRC4,BD |
R11 | T20 | T21 | associated_with | ERAP1,Behçet disease |
R12 | T22 | T23 | associated_with | ERAP1,BD |
R13 | T24 | T25 | associated_with | IL1B,Behçet disease |
R14 | T26 | T27 | associated_with | IL1R1,Behçet disease |
R15 | T28 | T29 | associated_with | IL1RN,Behçet disease |
R16 | T30 | T31 | associated_with | NLRP3,Behçet disease |
R17 | T32 | T33 | associated_with | TNFRSF1A,Behçet disease |
R18 | T34 | T35 | associated_with | PSTPIP1,Behçet disease |
R19 | T36 | T37 | associated_with | CASP1,Behçet disease |
R20 | T38 | T39 | associated_with | PYCARD,Behçet disease |
R21 | T40 | T41 | associated_with | NOD2,Behçet disease |
R22 | T42 | T43 | associated_with | NOD2,BD |
R23 | T44 | T45 | associated_with | TLR4,Behçet disease |
R24 | T46 | T47 | associated_with | TLR4,BD |
Allie
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
SS1_23633568_1_0 | 134-165 | expanded | denotes | Genome-wide association studies |
SS2_23633568_1_0 | 167-171 | abbr | denotes | GWAS |
SS1_23633568_2_0 | 385-399 | expanded | denotes | Behçet disease |
SS2_23633568_2_0 | 401-403 | abbr | denotes | BD |
SS1_23633568_2_1 | 406-428 | expanded | denotes | nonsynonymous variants |
SS2_23633568_2_1 | 430-434 | abbr | denotes | NSVs |
SS1_23633568_6_0 | 1425-1449 | expanded | denotes | Mediterranean fever gene |
SS2_23633568_6_0 | 1451-1455 | abbr | denotes | MEFV |
AE1_23633568_1_0 | SS1_23633568_1_0 | SS2_23633568_1_0 | abbreviatedTo | Genome-wide association studies,GWAS |
AE1_23633568_2_0 | SS1_23633568_2_0 | SS2_23633568_2_0 | abbreviatedTo | Behçet disease,BD |
AE1_23633568_2_1 | SS1_23633568_2_1 | SS2_23633568_2_1 | abbreviatedTo | nonsynonymous variants,NSVs |
AE1_23633568_6_0 | SS1_23633568_6_0 | SS2_23633568_6_0 | abbreviatedTo | Mediterranean fever gene,MEFV |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 1439-1444 | HP_0001945 | denotes | fever |
T2 | 1546-1551 | HP_0001945 | denotes | fever |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
23633568-6#79#88#geners28940577 | 1466-1475 | geners28940577 | denotes | Met694Val |
23633568-6#79#88#geners61752717 | 1466-1475 | geners61752717 | denotes | Met694Val |
23633568-6#79#88#geners28940577 | 1466-1475 | geners28940577 | denotes | Met694Val |
23633568-6#79#88#geners61752717 | 1466-1475 | geners61752717 | denotes | Met694Val |
23633568-6#136#164#diseaseC0031069 | 1523-1551 | diseaseC0031069 | denotes | familial Mediterranean fever |
23633568-6#176#178#diseaseC0004943 | 1563-1565 | diseaseC0004943 | denotes | BD |
79#88#geners28940577136#164#diseaseC0031069 | 23633568-6#79#88#geners28940577 | 23633568-6#136#164#diseaseC0031069 | associated_with | Met694Val,familial Mediterranean fever |
79#88#geners28940577176#178#diseaseC0004943 | 23633568-6#79#88#geners28940577 | 23633568-6#176#178#diseaseC0004943 | associated_with | Met694Val,BD |
79#88#geners61752717136#164#diseaseC0031069 | 23633568-6#79#88#geners61752717 | 23633568-6#136#164#diseaseC0031069 | associated_with | Met694Val,familial Mediterranean fever |
79#88#geners61752717176#178#diseaseC0004943 | 23633568-6#79#88#geners61752717 | 23633568-6#176#178#diseaseC0004943 | associated_with | Met694Val,BD |
79#88#geners28940577136#164#diseaseC0031069 | 23633568-6#79#88#geners28940577 | 23633568-6#136#164#diseaseC0031069 | associated_with | Met694Val,familial Mediterranean fever |
79#88#geners28940577176#178#diseaseC0004943 | 23633568-6#79#88#geners28940577 | 23633568-6#176#178#diseaseC0004943 | associated_with | Met694Val,BD |
79#88#geners61752717136#164#diseaseC0031069 | 23633568-6#79#88#geners61752717 | 23633568-6#136#164#diseaseC0031069 | associated_with | Met694Val,familial Mediterranean fever |
79#88#geners61752717176#178#diseaseC0004943 | 23633568-6#79#88#geners61752717 | 23633568-6#176#178#diseaseC0004943 | associated_with | Met694Val,BD |